Author

Abbas Tafakhori

Tehran University of Medical SciencesORCID 0000-0002-9835-0812Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Alexandre ReymondiD· 2 shared Francesca MattioliiD· 2 shared Hossein DarvishiD· 2 shared Saghar Ghasemi FirouzabadiiD· 2 shared Stylianos E. AntonarakisiD· 2 shared Alba Sanchis‐JuaniD· 1 shared Ambrin FatimaiD· 1 shared Caitlin Lawson· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandre ReymondORCID

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Author profile →

2 papers

Recent·Most cited

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos, Francesca Mattioli, Jacqueline Chrast, Sissy Bassani, Hossein Darvish, Ginevra Zanni, Stefania Colafati, Lorena Travaglini, Francesco Nicita, Shivarajan Manickavasagam Amudhavalli, Caitlin Lawson, Joseph G. Gleeson, Isabella Stuewe, , Alexandre Reymond

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

medRxiv · Oct 14, 2026 · PreprintGenetic & Genomic Medicine

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis, Muhammad Ansar

The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.

npj Genomic Medicine · Nov 11, 2021Peer-reviewedGenetic & Genomic Medicine